{"id":"hum0248","version":2,"url":"https://humandbs.dbcls.jp/research/hum0248/v2","datePublished":"2020-11-06","versions":[{"version":1,"datePublished":"2020-10-30"},{"version":2,"datePublished":"2020-11-06"}],"title":{"ja":"高精度長鎖解読による日本人基準ゲノム配列策定","en":"Establishment of a Japanese reference genome sequence by high-precision long-read sequencing"},"summary":{"aims":{"ja":"日本人基準ゲノム配列の構築","en":"To construct a Japanese reference genome sequence"},"methods":{"ja":"日本人健常男性3名それぞれから、PacBio、Bionano、Illumina HiSeq法にて配列を取得し、デノボアセンブリを実施後メタアセンブリにより三者の配列を統合した。さらに三者間において塩基が異なる部位では多数派アレルを採用した。遺伝地図・放射線ハイブリッド地図のマーカーによりアンカリングし、擬似染色体配列セットとして統合した。","en":"Sequence data were obtained from each of three healthy Japanese males by the PacBio, Bionano, and Illumina HiSeq platforms. De novo assembly was performed for each individual, and then the three assemblies were integrated by meta-assembly. In addition, the majority variant was adopted by majority vote for the polymorphic sites among the three assemblies. Finally, the meta-scaffolds were anchored by markers from genetic and radiation hybrid maps and integrated as a pseudo-chromosome sequence set."},"targets":{"ja":"日本人健常男性3名","en":"three Japanese male individuals"},"url":{"ja":[{"url":"https://www.megabank.tohoku.ac.jp/news/32217","text":"https://www.megabank.tohoku.ac.jp/news/32217"}],"en":[{"url":"https://www.megabank.tohoku.ac.jp/english/constructing-the-first-version-of-the-japanese-reference-genome-press-release/","text":"https://www.megabank.tohoku.ac.jp/english/constructing-the-first-version-of-the-japanese-reference-genome-press-release/"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"日本人健常男性：3名\n（日本人）","en":"3 Japanese male individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"日本人健常男性3名それぞれから、PacBio, Bionano, Illumina HiSeq法にて配列を取得した際のfastqファイルならびにオプティカルマップデータを提供する。","en":"Sequence data and optical maps obtained from each of three healthy Japanese males by PacBio, Bionano, and Illumina HiSeq platforms are provided."},"dataProviders":[{"name":{"ja":"山本 雅之","en":"Masayuki Yamamoto"},"organization":{"name":{"ja":"東北大学大学院 医学系研究科（兼）東北メディカル・メガバンク機構","en":"Tohoku University School of Medicine, Tohoku Medical Megabank Organization"}}}],"researchProjects":[{"name":{"ja":"JRGA (Japanese Reference Genome Assembly)","en":"JRGA (Japanese Reference Genome Assembly)"},"url":{"ja":[{"url":"https://jmorp.megabank.tohoku.ac.jp/","text":"https://jmorp.megabank.tohoku.ac.jp/"}],"en":[{"url":"https://jmorp.megabank.tohoku.ac.jp/","text":"https://jmorp.megabank.tohoku.ac.jp/"}]}}],"grants":[{"title":{"ja":"東北メディカル・メガバンク計画（東北大学）東日本大震災復興特別会計分","en":"Tohoku Medical Megabank Project (Tohoku University) Special account of the Great East Japan Earthquake disaster recovery"},"agency":{"ja":"日本医療研究開発機構 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0105001"]},{"title":{"ja":"東北メディカル・メガバンク計画（東北大学）一般会計分","en":"Tohoku Medical Megabank Project (Tohoku University) General accounting"},"agency":{"ja":"日本医療研究開発機構 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0105002"]},{"title":{"ja":"AMEDが行うゲノム医療研究支援サービスを支える研究開発基盤の整備","en":"Facilitation of R&D Platform for AMED Genome Mecidine Support"},"agency":{"ja":"日本医療研究開発機構 ゲノム医療実現推進プラットフォーム事業","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0405001"]},{"title":{"ja":"マルチスケール精神病データの疎性モデリング解析","en":"Constructive understanding of multi-scale dynamism of neuropsychiatric disorders"},"agency":{"ja":"科学研究費助成事業 新学術領域研究（研究領域提案型）","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)"},"grantIds":["JP19H05200"]},{"title":{"ja":"深層学習による大規模ゲノムコホートの次世代シークエンス解析","en":"NGS analysis of a large genome cohort by deep learning Research Project"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["JP19K06625"]}],"relatedPublications":[{"title":"Construction and Integration of Three De Novo Japanese Human Genome Assemblies toward a Population-Specific Reference","doi":"https://doi.org/10.1101/861658","datasets":["JGAD000362"]}],"datasets":["JGAD000362"],"controlledAccessUsers":[]}